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Items: 1 to 50 of 687

1.

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ, Price S, Su HC, Notarangelo G, Jiang P, Morawski A, Kanellopoulou C, Binder KW, Mukherjee R, Anibal JT, Sellers B, Zheng L, He T, George AB, Pittaluga S, Powers A, Kleiner DE, Kapuria D, Ghany M, Hunsberger S, Cohen JI, Uzel G, Bergerson J, Wolfe L, Toro C, Gahl W, Folio LR, Matthews H, Angelus P, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Orrego-Arango J, Gutiérrez-Hincapié S, Patel NC, Raymond K, Patiroglu T, Unal E, Karakukcu M, Day AG, Mehta P, Masutani E, De Ravin SS, Malech HL, Altan-Bonnet G, Rao VK, Mann M, Lenardo MJ.

J Clin Invest. 2019 Nov 5. pii: 131116. doi: 10.1172/JCI131116. [Epub ahead of print]

2.

Exposure to excessive heat and impacts on labour productivity linked to cumulative CO2 emissions.

Chavaillaz Y, Roy P, Partanen AI, Da Silva L, Bresson É, Mengis N, Chaumont D, Matthews HD.

Sci Rep. 2019 Sep 23;9(1):13711. doi: 10.1038/s41598-019-50047-w.

3.

[Invasive Pulmonary Aspergillosis].

Matthews H, Rohde H, Wichmann D, Kluge S.

Dtsch Med Wochenschr. 2019 Aug;144(17):1218-1222. doi: 10.1055/a-0817-7432. Epub 2019 Aug 27. German.

PMID:
31454845
4.

A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.

Cagdas D, Halaçlı SO, Tan Ç, Lo B, Çetinkaya PG, Esenboğa S, Karaatmaca B, Matthews H, Balcı-Hayta B, Arıkoğlu T, Ezgü F, Aladağ E, Saltık-Temizel İN, Demir H, Kuşkonmaz B, Okur V, Gümrük F, Göker H, Çetinkaya D, Boztuğ K, Lenardo M, Sanal Ö, Tezcan İ.

J Clin Immunol. 2019 Oct;39(7):726-738. doi: 10.1007/s10875-019-00677-6. Epub 2019 Aug 20.

PMID:
31432443
5.

Quantification of age-related changes in midsagittal facial profile using Fourier analysis: A longitudinal study on Japanese adult males.

Shaweesh AI, Matthews H, Penington A, Fan Y, Clement JG.

Forensic Sci Int. 2019 Jun;299:239.e1-239.e9. doi: 10.1016/j.forsciint.2019.04.006. Epub 2019 Apr 16.

PMID:
31053243
6.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.

Zhang Z, Gothe F, Pennamen P, James JR, McDonald D, Mata CP, Modis Y, Alazami AM, Acres M, Haller W, Bowen C, Döffinger R, Sinclair J, Brothers S, Zhang Y, Matthews HF, Naudion S, Pelluard F, Alajlan H, Yamazaki Y, Notarangelo LD, Thaventhiran JE, Engelhardt KR, Al-Mousa H, Hambleton S, Rooryck C, Smith KGC, Lenardo MJ.

J Exp Med. 2019 Jun 3;216(6):1311-1327. doi: 10.1084/jem.20182304. Epub 2019 Apr 30.

PMID:
31040185
7.

MeshMonk: Open-source large-scale intensive 3D phenotyping.

White JD, Ortega-Castrillón A, Matthews H, Zaidi AA, Ekrami O, Snyders J, Fan Y, Penington T, Van Dongen S, Shriver MD, Claes P.

Sci Rep. 2019 Apr 15;9(1):6085. doi: 10.1038/s41598-019-42533-y.

8.

Lysyl-tRNA synthetase as a drug target in malaria and cryptosporidiosis.

Baragaña B, Forte B, Choi R, Nakazawa Hewitt S, Bueren-Calabuig JA, Pisco JP, Peet C, Dranow DM, Robinson DA, Jansen C, Norcross NR, Vinayak S, Anderson M, Brooks CF, Cooper CA, Damerow S, Delves M, Dowers K, Duffy J, Edwards TE, Hallyburton I, Horst BG, Hulverson MA, Ferguson L, Jiménez-Díaz MB, Jumani RS, Lorimer DD, Love MS, Maher S, Matthews H, McNamara CW, Miller P, O'Neill S, Ojo KK, Osuna-Cabello M, Pinto E, Post J, Riley J, Rottmann M, Sanz LM, Scullion P, Sharma A, Shepherd SM, Shishikura Y, Simeons FRC, Stebbins EE, Stojanovski L, Straschil U, Tamaki FK, Tamjar J, Torrie LS, Vantaux A, Witkowski B, Wittlin S, Yogavel M, Zuccotto F, Angulo-Barturen I, Sinden R, Baum J, Gamo FJ, Mäser P, Kyle DE, Winzeler EA, Myler PJ, Wyatt PG, Floyd D, Matthews D, Sharma A, Striepen B, Huston CD, Gray DW, Fairlamb AH, Pisliakov AV, Walpole C, Read KD, Van Voorhis WC, Gilbert IH.

Proc Natl Acad Sci U S A. 2019 Apr 2;116(14):7015-7020. doi: 10.1073/pnas.1814685116. Epub 2019 Mar 20.

9.

Ethnic variations in compulsory detention under the Mental Health Act: a systematic review and meta-analysis of international data.

Barnett P, Mackay E, Matthews H, Gate R, Greenwood H, Ariyo K, Bhui K, Halvorsrud K, Pilling S, Smith S.

Lancet Psychiatry. 2019 Apr;6(4):305-317. doi: 10.1016/S2215-0366(19)30027-6. Epub 2019 Mar 4.

10.

Quantification of mandibular sexual dimorphism during adolescence.

Fan Y, Penington A, Kilpatrick N, Hardiman R, Schneider P, Clement J, Claes P, Matthews H.

J Anat. 2019 May;234(5):709-717. doi: 10.1111/joa.12949. Epub 2019 Mar 4.

PMID:
30834524
11.

Sodium current inhibition following stimulation of exchange protein directly activated by cyclic-3',5'-adenosine monophosphate (Epac) in murine skeletal muscle.

Matthews HR, Tan SRX, Shoesmith JA, Ahmad S, Valli H, Jeevaratnam K, Huang CL.

Sci Rep. 2019 Feb 13;9(1):1927. doi: 10.1038/s41598-018-36386-0.

12.

A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family.

Desjardins M, Arjunaraja S, Stinson JR, Dorjbal B, Sundaresan J, Niemela J, Raffeld M, Matthews HF, Wang A, Angelus P, Su HC, Mazer BD, Snow AL.

Front Immunol. 2018 Dec 12;9:2944. doi: 10.3389/fimmu.2018.02944. eCollection 2018.

13.

Assessment of Health-Related Quality of Life between People with Parkinson's Disease and Non-Parkinson's: Using Data Drawn from the '100 for Parkinson's' Smartphone-Based Prospective Study.

Fan X, Wang D, Hellman B, Janssen MF, Bakker G, Coghlan R, Hursey A, Matthews H, Whetstone I.

Int J Environ Res Public Health. 2018 Nov 13;15(11). pii: E2538. doi: 10.3390/ijerph15112538.

14.

Compulsory community treatment to reduce readmission to hospital and increase engagement with community care in people with mental illness: a systematic review and meta-analysis.

Barnett P, Matthews H, Lloyd-Evans B, Mackay E, Pilling S, Johnson S.

Lancet Psychiatry. 2018 Dec;5(12):1013-1022. doi: 10.1016/S2215-0366(18)30382-1. Epub 2018 Nov 1.

15.

Marker-based watershed transform method for fully automatic mandibular segmentation from CBCT images.

Fan Y, Beare R, Matthews H, Schneider P, Kilpatrick N, Clement J, Claes P, Penington A, Adamson C.

Dentomaxillofac Radiol. 2019 Feb;48(2):20180261. doi: 10.1259/dmfr.20180261. Epub 2018 Nov 9.

PMID:
30379569
16.

A high throughput screen for next-generation leads targeting malaria parasite transmission.

Delves MJ, Miguel-Blanco C, Matthews H, Molina I, Ruecker A, Yahiya S, Straschil U, Abraham M, León ML, Fischer OJ, Rueda-Zubiaurre A, Brandt JR, Cortés Á, Barnard A, Fuchter MJ, Calderón F, Winzeler EA, Sinden RE, Herreros E, Gamo FJ, Baum J.

Nat Commun. 2018 Sep 18;9(1):3805. doi: 10.1038/s41467-018-05777-2.

17.

Parkinson Matters.

Darweesh SKL, Raphael KG, Brundin P, Matthews H, Wyse RK, Chen H, Bloem BR.

J Parkinsons Dis. 2018;8(4):495-498. doi: 10.3233/JPD-181374.

18.

Reduced cardiomyocyte Na+ current in the age-dependent murine Pgc-1β-/- model of ventricular arrhythmia.

Ahmad S, Valli H, Smyth R, Jiang AY, Jeevaratnam K, Matthews HR, Huang CL.

J Cell Physiol. 2019 Apr;234(4):3921-3932. doi: 10.1002/jcp.27183. Epub 2018 Aug 26.

19.

Peptidergic control of the crop of the cabbage root fly, Delia radicum (L.) Diptera: Anthomyiidae): A role for myosuppressin.

Bell P, Down RE, Matthews HJ, Isaac RE, Audsley N.

Gen Comp Endocrinol. 2019 Jul 1;278:50-57. doi: 10.1016/j.ygcen.2018.08.001. Epub 2018 Aug 2.

20.

Mapping the Spectrum of Prenatal Alcohol Effects with Dense Surface Models of the Face and Brain.

Matthews H, Muggli E, Halliday J, Claes P.

Alcohol Clin Exp Res. 2018 Oct;42(10):1880-1882. doi: 10.1111/acer.13848. Epub 2018 Aug 16. No abstract available.

PMID:
30059158
21.

The Use of Fluoroquinolones for Tuberculosis in Victoria between 2011 and 2016.

Murray H, Tay EL, Dinh S, Matthews H, Street A, Denholm JT.

Tuberc Res Treat. 2018 Jul 2;2018:6860479. doi: 10.1155/2018/6860479. eCollection 2018.

22.

Medical schools and general practice.

Matthews H.

Br J Gen Pract. 2018 Jun;68(671):268. doi: 10.3399/bjgp18X696305. No abstract available.

23.

1.5 °C carbon budget dependent on carbon cycle uncertainty and future non-CO2 forcing.

Mengis N, Partanen AI, Jalbert J, Matthews HD.

Sci Rep. 2018 Apr 11;8(1):5831. doi: 10.1038/s41598-018-24241-1.

24.

The Role of Mitotic Cell-Substrate Adhesion Re-modeling in Animal Cell Division.

Dix CL, Matthews HK, Uroz M, McLaren S, Wolf L, Heatley N, Win Z, Almada P, Henriques R, Boutros M, Trepat X, Baum B.

Dev Cell. 2018 Apr 9;45(1):132-145.e3. doi: 10.1016/j.devcel.2018.03.009.

25.

Checks and balances? DNA replication and the cell cycle in Plasmodium.

Matthews H, Duffy CW, Merrick CJ.

Parasit Vectors. 2018 Mar 27;11(1):216. doi: 10.1186/s13071-018-2800-1. Review.

26.

Estimating age and synthesising growth in children and adolescents using 3D facial prototypes.

Matthews H, Penington A, Clement J, Kilpatrick N, Fan Y, Claes P.

Forensic Sci Int. 2018 May;286:61-69. doi: 10.1016/j.forsciint.2018.02.024. Epub 2018 Mar 6.

PMID:
29567544
27.

Modelling 3D craniofacial growth trajectories for population comparison and classification illustrated using sex-differences.

Matthews HS, Penington AJ, Hardiman R, Fan Y, Clement JG, Kilpatrick NM, Claes PD.

Sci Rep. 2018 Mar 19;8(1):4771. doi: 10.1038/s41598-018-22752-5.

28.

'It's a silver lining': A template analysis of satisfaction and quality of life following post-mastectomy breast reconstruction.

Matthews H, Turner A, Williamson I, Clyne W.

Br J Health Psychol. 2018 May;23(2):455-475. doi: 10.1111/bjhp.12299. Epub 2018 Mar 2.

PMID:
29498475
29.

Development of a Photo-Cross-Linkable Diaminoquinazoline Inhibitor for Target Identification in Plasmodium falciparum.

Lubin AS, Rueda-Zubiaurre A, Matthews H, Baumann H, Fisher FR, Morales-Sanfrutos J, Hadavizadeh KS, Nardella F, Tate EW, Baum J, Scherf A, Fuchter MJ.

ACS Infect Dis. 2018 Apr 13;4(4):523-530. doi: 10.1021/acsinfecdis.7b00228. Epub 2018 Feb 5.

30.

Facial morphology and growth following surgery for congenital midline cervical cleft patients.

Fan Y, Matthews H, Kilpatrick N, Claes P, Clement J, Penington A.

Int J Oral Maxillofac Surg. 2018 Apr;47(4):437-441. doi: 10.1016/j.ijom.2017.12.006. Epub 2018 Jan 17.

PMID:
29373199
31.

Bad medicine.

Matthews H.

Br J Gen Pract. 2018 Feb;68(667):70. doi: 10.3399/bjgp18X694685. No abstract available.

32.

Two-step interphase microtubule disassembly aids spindle morphogenesis.

Mchedlishvili N, Matthews HK, Corrigan A, Baum B.

BMC Biol. 2018 Jan 23;16(1):14. doi: 10.1186/s12915-017-0478-z.

33.

Cardiomyocyte ionic currents in intact young and aged murine Pgc-1β-/- atrial preparations.

Valli H, Ahmad S, Jiang AY, Smyth R, Jeevaratnam K, Matthews HR, Huang CL.

Mech Ageing Dev. 2018 Jan;169:1-9. doi: 10.1016/j.mad.2017.11.016. Epub 2017 Nov 29.

34.

A real-time Global Warming Index.

Haustein K, Allen MR, Forster PM, Otto FEL, Mitchell DM, Matthews HD, Frame DJ.

Sci Rep. 2017 Nov 13;7(1):15417. doi: 10.1038/s41598-017-14828-5.

35.

Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.

Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg ND, Meffre E, Gelfand EW, Snow AL, Milner JD.

Nat Genet. 2017 Oct 27;49(11):1661. doi: 10.1038/ng1117-1661b.

PMID:
29074947
36.

Epac-induced ryanodine receptor type 2 activation inhibits sodium currents in atrial and ventricular murine cardiomyocytes.

Valli H, Ahmad S, Sriharan S, Dean LD, Grace AA, Jeevaratnam K, Matthews HR, Huang CL.

Clin Exp Pharmacol Physiol. 2018 Mar;45(3):278-292. doi: 10.1111/1440-1681.12870. Epub 2017 Dec 7.

37.

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

Ozen A, Comrie WA, Ardy RC, Domínguez Conde C, Dalgic B, Beser ÖF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ.

N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28.

38.

Germline hypomorphic CARD11 mutations in severe atopic disease.

Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD.

Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Erratum in: Nat Genet. 2017 Oct 27;49(11):1661.

39.

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC.

J Exp Med. 2017 Jul 3;214(7):1949-1972. doi: 10.1084/jem.20161759. Epub 2017 Jun 12.

40.

Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of Age.

Muggli E, Matthews H, Penington A, Claes P, O'Leary C, Forster D, Donath S, Anderson PJ, Lewis S, Nagle C, Craig JM, White SM, Elliott EJ, Halliday J.

JAMA Pediatr. 2017 Aug 1;171(8):771-780. doi: 10.1001/jamapediatrics.2017.0778.

41.

Anti-MuSK-Positive Myasthenic Crisis in a 7-Year-Old Female.

Matthews HJ, Thambundit A, Allen BR.

Case Rep Emerg Med. 2017;2017:8762302. doi: 10.1155/2017/8762302. Epub 2017 Apr 30.

42.

Life-Cycle Assessment Harmonization and Soil Science Ranking Results on Food-Waste Management Methods.

Morris J, Brown S, Cotton M, Matthews HS.

Environ Sci Technol. 2017 May 16;51(10):5360-5367. doi: 10.1021/acs.est.6b06115. Epub 2017 May 1.

PMID:
28414913
43.

Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.

Takeda AJ, Zhang Y, Dornan GL, Siempelkamp BD, Jenkins ML, Matthews HF, McElwee JJ, Bi W, Seeborg FO, Su HC, Burke JE, Lucas CL.

J Allergy Clin Immunol. 2017 Oct;140(4):1152-1156.e10. doi: 10.1016/j.jaci.2017.03.026. Epub 2017 Apr 13. No abstract available.

44.

Investigating antimalarial drug interactions of emetine dihydrochloride hydrate using CalcuSyn-based interactivity calculations.

Matthews H, Deakin J, Rajab M, Idris-Usman M, Nirmalan NJ.

PLoS One. 2017 Mar 3;12(3):e0173303. doi: 10.1371/journal.pone.0173303. eCollection 2017.

45.

"Omics"-Informed Drug and Biomarker Discovery: Opportunities, Challenges and Future Perspectives.

Matthews H, Hanison J, Nirmalan N.

Proteomes. 2016 Sep 12;4(3). pii: E28. doi: 10.3390/proteomes4030028. Review.

46.

Predictors of satisfaction and quality of life following post-mastectomy breast reconstruction.

Matthews H, Carroll N, Renshaw D, Turner A, Park A, Skillman J, McCarthy K, Grunfeld EA.

Psychooncology. 2017 Nov;26(11):1860-1865. doi: 10.1002/pon.4397. Epub 2017 Mar 6.

PMID:
28195672
47.

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.

Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, Du L, Matsuda-Lennikov M, Romano R, Caridha R, Bade S, Zhang Y, Frederiksen J, Fang M, Bal SK, Haskologlu S, Dogu F, Tacyildiz N, Matthews HF, McElwee JJ, Gostick E, Price DA, Palendira U, Aghamohammadi A, Boisson B, Rezaei N, Karlsson AC, Lenardo MJ, Casanova JL, Hammarström L, Tangye SG, Su HC, Pan-Hammarström Q.

J Exp Med. 2017 Jan;214(1):91-106. doi: 10.1084/jem.20160849. Epub 2016 Dec 23.

48.

The global pyrogenic carbon cycle and its impact on the level of atmospheric CO2 over past and future centuries.

Landry JS, Matthews HD.

Glob Chang Biol. 2017 Aug;23(8):3205-3218. doi: 10.1111/gcb.13603. Epub 2017 Jan 25.

PMID:
27992954
49.

'Dropped from the system': the experiences and challenges of long-term breast cancer survivors.

Matthews H, Semper H.

J Adv Nurs. 2017 Jun;73(6):1355-1365. doi: 10.1111/jan.13237. Epub 2017 Jan 13.

PMID:
27987220
50.

Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.

Lyons JJ, Yu X, Hughes JD, Le QT, Jamil A, Bai Y, Ho N, Zhao M, Liu Y, O'Connell MP, Trivedi NN, Nelson C, DiMaggio T, Jones N, Matthews H, Lewis KL, Oler AJ, Carlson RJ, Arkwright PD, Hong C, Agama S, Wilson TM, Tucker S, Zhang Y, McElwee JJ, Pao M, Glover SC, Rothenberg ME, Hohman RJ, Stone KD, Caughey GH, Heller T, Metcalfe DD, Biesecker LG, Schwartz LB, Milner JD.

Nat Genet. 2016 Dec;48(12):1564-1569. doi: 10.1038/ng.3696. Epub 2016 Oct 17.

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